Mucopolysaccharidosis type VII (MPS VII, ft glucuronidase deficiency) has been described in association with nonimmune hydrops fetalis. Three consecutive pregnancies in an itinerant family, which resulted in stillbirths caused by non-immune hydrops are described. The parents were closely related and there was a strong family history of storage disorders. The main clue to the diagnosis, however, came from the presence of pronounced foamy cytoplasmic change in the villous Hofbauer celis of the placenta. This raised the possibility of an inherited metabolic storage disorder. The parents were subsequently shown to have f glucuronidase activities in the heterozygous range in leucocytes and fibroblasts which suggested that the nonimmune hydrops was caused by ft glucuronidase deficiency.
(Appleman et al. 1988). If NIHF is detected by antenatal ultrasound, especially if recurrent or if the parents are consanguineous, amniocentesis and examination of amniotic fluid and cultured amniocytes for evidence of metabolic storage disease should be performed. After delivery, careful histological examination of the placenta is essential in all cases of unexplained non-immune hydrops in order to look for a storage disorder.Our patient has subsequently had three healthy children. The eldest boy has leucocyte beta-glucuronidase levels consistent with heterozygosity. The second boy and a girl have not been investigated. Ann Harper (1992).We would disagree with the statement in the second paragraph of their discussion that 'the only well reeognised cause of recurrent non-immune hydrops is homozygous alphathalassemia'. This is clearly incorrect since metabolic storage disorders are also a well recognised cause of recurrcnt NIHF (Gillan et al. 1984), and metabolic storage disease was not excluded in these two families. Lack of awareness of storage disorders as a cause of recurrent NIHF and resulting failure to carry out the appropriate investigations means that the diagnosis may be missed. We have reported one such case which confirms the high mortality of recurrent NIHF and its likely causation by a metabolic storage disorder (Nelson eral. 1982). Foamy changes of placental cells in probable b-glucuronidase deficiency associated with hydrops fetalis (J Clin Path, in press). This patient delivered three successive stillborn grossly hydropic male infants between 28 and 31 weeks gestation. The underlying cause was not suspected until histological examination of the oedcmatous placenta of the third baby was performed. Postmortem examination showed no obvious fetal malformations and severe autolysis rendered fetal histology unsatisfactory, but the placenta had many Hofbauer cells containing abundant foamy cytoplasm suggesting a metabolic storage disorder. Investigation of the parents, closely related members of a large in-bred itinerant family, was consistent with both parents being heterozygotes for the beta-glucuronidase (Mucopolysaccharidosis VIT) gene.Mucopolysaccharidosis
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